| HPO |
HP:0001249 |
Intellectual disability |
"Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70." [HPO:probinson] |
This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263). |
HP:0011446, HP:0012759 |
| HPO |
HP:0002240 |
Hepatomegaly |
"Abnormally increased size of the liver." [HPO:probinson] |
— |
HP:0003271, HP:0410042 |
| HPO |
HP:0001520 |
Large for gestational age |
"The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age." [eMedicine:262679, HPO:probinson] |
Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate. |
HP:0004324 |
| HPO |
HP:0000093 |
Proteinuria |
"Increased levels of protein in the urine." [HPO:probinson] |
— |
HP:0020129 |
| HPO |
HP:0002910 |
Elevated hepatic transaminase |
"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:probinson] |
— |
HP:0012379 |
| HPO |
HP:0000980 |
Pallor |
"Abnormally pale skin." [HPO:probinson] |
— |
HP:0011121 |
| HPO |
HP:0002013 |
Vomiting |
"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions." [HPO:probinson] |
— |
HP:0002017 |
| HPO |
HP:0004912 |
Hypophosphatemic rickets |
— |
— |
HP:0002148, HP:0002748 |
| HPO |
HP:0000825 |
Hyperinsulinemic hypoglycemia |
"An increased concentration of insulin combined with a decreased concentration of glucose in the blood." [HPO:probinson] |
Hyperinsulinemic hypoglycemia describes a situation in which the level of insulin is inappropriate for the low level of blood sugar. |
HP:0000842 |
| HPO |
HP:0001250 |
Seizure |
"A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [HPO:probinson, PMID:15816939] |
A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. |
HP:0012638 |
| HPO |
HP:0001337 |
Tremor |
"An unintentional, oscillating to-and-fro muscle movement about a joint axis." [HPO:probinson, PMID:16344298, PMID:20589866] |
Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching. |
HP:0004305 |
| HPO |
HP:0003076 |
Glycosuria |
"An increased concentration of glucose in the urine." [HPO:gcarletti] |
Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis. |
HP:0033354 |
| HPO |
HP:0001319 |
Neonatal hypotonia |
"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
— |
HP:0001252 |
| HPO |
HP:0003162 |
Fasting hypoglycemia |
— |
— |
HP:0001943 |
| HPO |
HP:0012378 |
Fatigue |
"A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
Fatigue is distinct from muscle weakness. |
HP:0025142 |
| HPO |
HP:0005979 |
Metabolic ketoacidosis |
"A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake." [] |
— |
HP:0001942, HP:0001993 |
| HPO |
HP:0001998 |
Neonatal hypoglycemia |
— |
— |
HP:0001943 |
| HPO |
HP:0001985 |
Hypoketotic hypoglycemia |
"A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies." [HPO:probinson] |
Normally, decreased glucose production leads to increased mitochondrial fatty acid beta-oxidation and the production of ketones. Thus, ketones provide an indication of whether the hypoglycemia is a result of inadequate production or overutilization of glucose (which tends to be associated with low plasma ketone levels). Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. A good starting point for evaluating hypoglycemia is to divide patients into ketotic or non-ketotic. Normal physiologic response to decreased glucose production is increased mitochondrial fatty acid beta-oxidation and the production of ketones. Ketones provide an indirect indication of whether hypoglycemia is the result of inadequate production or of over-utilization of glucose (insulin-induced over-utilization, associated with low urine or plasma ketones). The history of the relationship of the hypoglycemia to feeding is often helpful. Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. Patients with defects in glycogen breakdown, gluconeogenesis, or fatty acid oxidation tend to tolerate short-term fasting much better. |
HP:0001943 |
| HPO |
HP:0001649 |
Tachycardia |
"A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:probinson] |
— |
HP:0004308 |
| HPO |
HP:0002014 |
Diarrhea |
"Abnormally increased frequency of loose or watery bowel movements." [HPO:probinson] |
— |
HP:0011458 |
| HPO |
HP:0003155 |
Elevated circulating alkaline phosphatase concentration |
"Abnormally increased serum levels of alkaline phosphatase activity." [HPO:probinson, PMID:29083622] |
— |
HP:0004379 |
| HPO |
HP:0004359 |
Abnormal circulating fatty-acid concentration |
"A deviation from the normal concentration of a fatty acid in the blood circulation." [HPO:probinson] |
A fatty acid is an aliphatic monocarboxylic acid derived from or contained in esterified form. Natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated. R-COOH. Fatty acids are usually derived from triglycerides or phospholipids. |
HP:0003119 |
| HPO |
HP:0000713 |
Agitation |
"A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension." [PMID:29630205] |
— |
HP:0000711 |
| HPO |
HP:0001259 |
Coma |
"Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli." [HPO:probinson] |
Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem. |
HP:0004372 |
| HPO |
HP:0002329 |
Drowsiness |
"Excessive daytime sleepiness." [HPO:probinson] |
— |
HP:0004372 |